Incidental Mutation 'IGL01012:Ipo8'
ID 53617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipo8
Ensembl Gene ENSMUSG00000040029
Gene Name importin 8
Synonyms C130009K11Rik, Om1, Ranbp8, OM-1, 6230418K12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01012
Quality Score
Status
Chromosome 6
Chromosomal Location 148672181-148732965 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 148690561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048418]
AlphaFold Q7TMY7
Predicted Effect probably benign
Transcript: ENSMUST00000048418
SMART Domains Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029

DomainStartEndE-ValueType
IBN_N 22 102 1.59e-13 SMART
Pfam:Cse1 166 470 6.6e-11 PFAM
low complexity region 895 908 N/A INTRINSIC
low complexity region 924 938 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145743
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,972,772 (GRCm39) M249K possibly damaging Het
Adamtsl1 T C 4: 86,260,426 (GRCm39) F879S possibly damaging Het
Afap1l2 T C 19: 56,918,693 (GRCm39) E30G probably damaging Het
Aqp9 A G 9: 71,037,831 (GRCm39) probably benign Het
Arhgap17 A T 7: 122,885,791 (GRCm39) probably benign Het
Arhgef10 T C 8: 15,029,977 (GRCm39) S921P probably damaging Het
Atp6v0e2 T C 6: 48,514,749 (GRCm39) I22T probably damaging Het
AY074887 C T 9: 54,857,963 (GRCm39) probably benign Het
Bcl2l15 T A 3: 103,740,730 (GRCm39) D65E probably damaging Het
C2cd6 A T 1: 59,036,507 (GRCm39) probably benign Het
Ccdc138 G A 10: 58,376,737 (GRCm39) probably null Het
Ccdc7b A G 8: 129,904,838 (GRCm39) T159A possibly damaging Het
Ccser1 A G 6: 61,615,474 (GRCm39) T659A probably benign Het
Cd300ld2 T A 11: 114,903,123 (GRCm39) I241F probably benign Het
Cep192 T A 18: 67,945,477 (GRCm39) N192K possibly damaging Het
Csmd1 T C 8: 15,967,341 (GRCm39) K3174R probably benign Het
Dpy30 A T 17: 74,614,749 (GRCm39) L65I probably damaging Het
Eci2 A T 13: 35,174,312 (GRCm39) L83* probably null Het
F7 A T 8: 13,083,409 (GRCm39) E183V probably damaging Het
Gabrg1 T C 5: 70,935,512 (GRCm39) K214R probably benign Het
Galr2 A T 11: 116,173,996 (GRCm39) T209S probably damaging Het
Gimap9 T C 6: 48,654,851 (GRCm39) probably null Het
Gip C A 11: 95,916,285 (GRCm39) F28L probably benign Het
Gpd2 A G 2: 57,254,542 (GRCm39) N662S probably benign Het
Grik2 T G 10: 49,149,052 (GRCm39) D511A probably damaging Het
Ift122 T A 6: 115,876,452 (GRCm39) Y563N probably damaging Het
Islr T C 9: 58,064,511 (GRCm39) E332G probably damaging Het
Itgb7 G A 15: 102,136,020 (GRCm39) S5L probably benign Het
Itpr2 G A 6: 146,246,659 (GRCm39) R1087W probably damaging Het
Katnal2 C A 18: 77,105,250 (GRCm39) V66F probably damaging Het
Krt81 T C 15: 101,358,900 (GRCm39) D284G probably benign Het
Krtap4-8 T A 11: 99,670,831 (GRCm39) probably benign Het
Map1s C A 8: 71,366,554 (GRCm39) N486K probably benign Het
Med13l G A 5: 118,872,093 (GRCm39) D842N probably damaging Het
Mef2c T A 13: 83,803,714 (GRCm39) M306K probably damaging Het
Myb C T 10: 21,022,159 (GRCm39) V377I probably benign Het
Myocd C T 11: 65,075,451 (GRCm39) G558R possibly damaging Het
Nars1 G T 18: 64,638,039 (GRCm39) A305E probably damaging Het
Neb A T 2: 52,086,373 (GRCm39) N5233K probably benign Het
Nipsnap2 T C 5: 129,823,503 (GRCm39) I181T possibly damaging Het
Or10d4b A T 9: 39,534,661 (GRCm39) M81L probably benign Het
Or1s2 T C 19: 13,758,937 (GRCm39) probably benign Het
P3h2 A C 16: 25,805,998 (GRCm39) C282G probably damaging Het
Pcgf5 T A 19: 36,420,268 (GRCm39) C167S probably damaging Het
Pck2 T C 14: 55,781,526 (GRCm39) probably benign Het
Peli2 C T 14: 48,490,187 (GRCm39) R169* probably null Het
Pramel16 T A 4: 143,676,784 (GRCm39) probably benign Het
Psme3ip1 G A 8: 95,313,990 (GRCm39) R104W probably damaging Het
Ralgapa2 T A 2: 146,263,659 (GRCm39) Q686L possibly damaging Het
Scap C A 9: 110,191,488 (GRCm39) P50H probably damaging Het
Sh3rf2 T A 18: 42,187,257 (GRCm39) D125E possibly damaging Het
Slc25a38 T C 9: 119,945,560 (GRCm39) probably benign Het
Slc35a5 A G 16: 44,964,195 (GRCm39) V346A probably damaging Het
Smad4 T A 18: 73,808,880 (GRCm39) N129I probably damaging Het
Sod2 C T 17: 13,232,464 (GRCm39) A163V possibly damaging Het
Spred3 T A 7: 28,860,948 (GRCm39) probably benign Het
Stag1 C A 9: 100,737,912 (GRCm39) A423E possibly damaging Het
Stk17b A T 1: 53,800,196 (GRCm39) S261T probably benign Het
Stx3 T C 19: 11,769,152 (GRCm39) K58E probably damaging Het
Timm10b C A 7: 105,290,345 (GRCm39) Y79* probably null Het
Tmem204 T C 17: 25,289,329 (GRCm39) D97G probably damaging Het
Tnfrsf25 T C 4: 152,202,885 (GRCm39) V181A probably benign Het
Trim54 T G 5: 31,294,302 (GRCm39) S313A probably benign Het
Unc79 T A 12: 103,078,714 (GRCm39) D1433E probably damaging Het
Vmn2r23 A G 6: 123,706,555 (GRCm39) T462A probably benign Het
Wdr27 T A 17: 15,146,509 (GRCm39) H162L probably damaging Het
Other mutations in Ipo8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ipo8 APN 6 148,684,284 (GRCm39) missense possibly damaging 0.77
IGL01124:Ipo8 APN 6 148,678,874 (GRCm39) missense probably benign
IGL01978:Ipo8 APN 6 148,678,787 (GRCm39) missense probably benign 0.25
IGL02111:Ipo8 APN 6 148,701,278 (GRCm39) missense probably damaging 1.00
IGL02193:Ipo8 APN 6 148,678,782 (GRCm39) missense probably damaging 0.96
IGL02589:Ipo8 APN 6 148,711,405 (GRCm39) missense probably damaging 0.98
IGL02690:Ipo8 APN 6 148,678,861 (GRCm39) missense probably benign
IGL02724:Ipo8 APN 6 148,692,979 (GRCm39) nonsense probably null
IGL02935:Ipo8 APN 6 148,691,339 (GRCm39) missense probably benign 0.03
IGL03027:Ipo8 APN 6 148,678,737 (GRCm39) missense probably benign 0.01
IGL03065:Ipo8 APN 6 148,686,205 (GRCm39) missense probably benign 0.44
IGL03338:Ipo8 APN 6 148,701,755 (GRCm39) missense probably benign 0.01
important UTSW 6 148,717,995 (GRCm39) nonsense probably null
R0032:Ipo8 UTSW 6 148,712,209 (GRCm39) missense probably damaging 0.99
R0032:Ipo8 UTSW 6 148,712,209 (GRCm39) missense probably damaging 0.99
R0088:Ipo8 UTSW 6 148,703,434 (GRCm39) missense probably benign 0.27
R0373:Ipo8 UTSW 6 148,676,540 (GRCm39) missense probably benign 0.00
R0539:Ipo8 UTSW 6 148,719,606 (GRCm39) missense probably benign 0.00
R0565:Ipo8 UTSW 6 148,688,221 (GRCm39) missense probably damaging 1.00
R0660:Ipo8 UTSW 6 148,701,711 (GRCm39) missense probably benign 0.02
R0664:Ipo8 UTSW 6 148,701,711 (GRCm39) missense probably benign 0.02
R0791:Ipo8 UTSW 6 148,723,225 (GRCm39) missense possibly damaging 0.94
R0989:Ipo8 UTSW 6 148,698,180 (GRCm39) missense probably benign 0.38
R1416:Ipo8 UTSW 6 148,690,591 (GRCm39) missense probably benign
R1417:Ipo8 UTSW 6 148,719,550 (GRCm39) missense probably benign 0.02
R1590:Ipo8 UTSW 6 148,712,163 (GRCm39) splice site probably null
R1703:Ipo8 UTSW 6 148,691,390 (GRCm39) missense probably benign 0.00
R1709:Ipo8 UTSW 6 148,684,226 (GRCm39) missense probably benign
R2079:Ipo8 UTSW 6 148,690,660 (GRCm39) missense probably damaging 1.00
R2338:Ipo8 UTSW 6 148,691,321 (GRCm39) missense probably benign 0.00
R2359:Ipo8 UTSW 6 148,717,975 (GRCm39) splice site probably benign
R2696:Ipo8 UTSW 6 148,698,239 (GRCm39) missense probably benign 0.01
R3407:Ipo8 UTSW 6 148,723,207 (GRCm39) missense probably benign 0.03
R3408:Ipo8 UTSW 6 148,723,207 (GRCm39) missense probably benign 0.03
R3709:Ipo8 UTSW 6 148,707,842 (GRCm39) splice site probably null
R3710:Ipo8 UTSW 6 148,707,842 (GRCm39) splice site probably null
R3945:Ipo8 UTSW 6 148,719,615 (GRCm39) missense probably damaging 1.00
R4326:Ipo8 UTSW 6 148,701,662 (GRCm39) unclassified probably benign
R4329:Ipo8 UTSW 6 148,701,662 (GRCm39) unclassified probably benign
R6105:Ipo8 UTSW 6 148,700,168 (GRCm39) missense probably damaging 1.00
R6148:Ipo8 UTSW 6 148,701,278 (GRCm39) missense probably damaging 1.00
R6359:Ipo8 UTSW 6 148,678,748 (GRCm39) missense probably benign 0.01
R6377:Ipo8 UTSW 6 148,717,995 (GRCm39) nonsense probably null
R6724:Ipo8 UTSW 6 148,711,473 (GRCm39) splice site probably null
R7283:Ipo8 UTSW 6 148,725,979 (GRCm39) missense possibly damaging 0.86
R7436:Ipo8 UTSW 6 148,691,303 (GRCm39) missense probably benign 0.13
R7445:Ipo8 UTSW 6 148,691,315 (GRCm39) missense probably benign 0.09
R8044:Ipo8 UTSW 6 148,711,421 (GRCm39) missense probably damaging 1.00
R8209:Ipo8 UTSW 6 148,698,176 (GRCm39) missense possibly damaging 0.93
R8812:Ipo8 UTSW 6 148,676,575 (GRCm39) missense possibly damaging 0.64
R8943:Ipo8 UTSW 6 148,676,547 (GRCm39) missense probably benign 0.00
R9067:Ipo8 UTSW 6 148,678,730 (GRCm39) missense probably damaging 1.00
R9129:Ipo8 UTSW 6 148,700,125 (GRCm39) missense probably benign 0.05
R9297:Ipo8 UTSW 6 148,703,076 (GRCm39) missense possibly damaging 0.63
R9419:Ipo8 UTSW 6 148,686,064 (GRCm39) missense probably benign 0.15
Z1177:Ipo8 UTSW 6 148,698,210 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-28